Accuracy of Glucagon Testing Across Transition in Young Adults with Childhood-Onset Growth Hormone Deficiency.

CONTEXT: The 2019 AACE guidelines suggested peak GH-cutoffs to glucagon test (GST) of ≤3 µg/L and ≤1 µg/L in the diagnosis of permanent GH deficiency (GHD) during the transition phase. OBJECTIVE: Aim of the study was to evaluate the accuracy of GST compared to insulin tolerance test (ITT) in the definition of GHD at adult height achievement. PATIENTS AND METHODS: Ninety-seven subjects with childhood-onset GHD (median age, 17.39 years) underwent ITT, GST and IGF-1 testing; 44 subjects were idiopathic (isolated GHD), 35 moderate organic GHD (0-2 hormone deficiencies-HDs) and 18 severe organic GHD (≥3 HDs). RESULTS: Bland and Altman analysis showed a high consistency of GH peak measures after ITT and GST. Receiver operating characteristic analysis-ROC- identified 7.3 µg/L as the optimal GH peak cutoff to GST (95% CI 4.15-8.91; sensitivity 95.7%, specificity 88.2%, positive predictive value-PPV-88.0%, negative predictive value-NPV-95.7%), able to correctly classify 91.8% of the entire cohort while 5.8 µg/L was the best GH peak cutoff able to correctly classify 91.4% of moderate organic GHD patients (95% CI 3.16-7.39; sensitivity 96.0%, specificity 80.0%, PPV 92.3%, NPV 88.9%). Patients with ≥3HDs showed a GH peak <5µg/L at ITT and <5.8µg/L at GST but one. The optimal cutoff for IGF1 was -1.4 SDS (95% CI -1.94-0.77; sensitivity 75%, specificity 94%, PPV 91.7%, NPV 81.0%) that correctly classified 85.1% of the study population. CONCLUSIONS: A GH peak to GST <5.8 µg/L represents an accurate diagnostic cutoff for young adults with childhood-onset GHD and high pre-test probability of permanent GHD.

Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy.

KIF5C encodes a protein belonging to the kinesin family and involved in cellular transport. Variants in KIF5C were first associated a decade ago with microcephaly and malformations of cortical development, with a phenotypic spectrum ranging from polymicrogyria to pachygyria. Currently, eight patients have been reported so far. Here we describe a new paediatric patient carrying the recurrent p.(Glu237Lys) KIF5C variant associated with a distinctive neuroradiological pattern of abnormal posterior course of the corticospinal tract at the level of the pons with a thickened anterior component of the transverse pontine fibers. This finding is likely related to altered axonal guidance and requires further evidence in other patients with KIF5C-related disorder.

The impact of COVID-19 lockdown on infectious diseases epidemiology: The experience of a tertiary Italian Pediatric Emergency Department.

INTRODUCTION: The aim of this study was to describe the rate and types of community-acquired respiratory infections observed in a pediatric ED during the SARS-CoV-2 related lockdown in Italy and to compare data with the same period of previous year. METHODS: A retrospective analysis of medical charts of patients arrived at the ED of Gaslini Children's Hospital from 10th March 2020 to 30th April 2019 and the same frame of 2020 were performed. We compared two groups by demographics, duration of fever before ED admission, triage code, number of patients hospitalized after ED evaluation. We calculated proportion and incidence rate for airborne infections, fever, and urinary tract infections (UTI), appendicitis, and gastroenteritis for control. RESULTS: 1362 children arrived at the ED during the lockdown compared to 5628 in the same period of 2019 (-75,8%). No difference was noticed (27.7% vs 28.4%) in the total amount of infectious episodes. A significant reduction in rate of incidence and proportion were observed for upper respiratory tract infections (21,4% vs 28%), otitis (2,6% vs 16,2%), streptococcal infections (0,5% vs 5,2%) and bronchiolitis (2,1% vs 5,7%). Conversely, FUO (27,8 vs 11,1%), infectious mononucleosis (2,6% vs 0,4%), UTI (7,4% vs 2,9%) and appendicitis (6,8% vs 1,1%) significantly increased. Median time from the onset of fever and arrival in ED was significantly lower in 2020 group. CONCLUSION: Our results demonstrated a reduction in community-acquired respiratory infections during the lockdown for COVID-19. The increase in rate of FUO and febrile conditions, together with the short time from fever onset and ED visit could be related to the fear for a SARS-CoV-2 infection.